ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) (rs11570052)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172560 SCV000054776 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035648 SCV000059299 likely benign not specified 2015-05-07 criteria provided, single submitter clinical testing p.Val189Ile in exon 5 of MYBPC3: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (204/60142) of European chrom osomes, including 2 homozygotes, by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org; dbSNP rs11570052).
Invitae RCV000195534 SCV000253166 benign Hypertrophic cardiomyopathy 2018-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247261 SCV000318555 likely benign Cardiovascular phenotype 2018-01-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000610786 SCV000744872 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000035648 SCV000747988 likely benign not specified 2016-07-05 criteria provided, single submitter clinical testing
Color RCV000776040 SCV000910643 likely benign Cardiomyopathy 2018-03-07 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852655 SCV000995361 likely benign Long QT syndrome 2018-11-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030292 SCV000052959 benign Primary familial hypertrophic cardiomyopathy 2015-05-26 no assertion criteria provided clinical testing
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000172560 SCV000280274 likely benign not provided 2016-06-20 no assertion criteria provided provider interpretation reclassified based on 2015 re-review. Data from that re-review is summarized in DOI: 10.1161/CIRCGENETICS.116.001700.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000610786 SCV000733067 benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.